Epidemiology and health related quality of life in hypoparathyroidism in Norway

Autor: Kristian J. Fougner, Erik Fink Eriksen, Synnove Emblem Holte, Kristian Løvås, Johan Svartberg, Eystein S. Husebye, Bjørn G. Nedrebø, Ragnar B. Moe, Johan Arild Evang, Kari Lima, E. Helen Kemp, Marianne Catharina Astor, Anne Grethe Myhre, Aleksandra Debowska, Christian Fossum
Jazyk: angličtina
Rok vydání: 2016
Předmět:
Adult
Male
medicine.medical_specialty
Pediatrics
Adolescent
Hypoparathyroidism
Endocrinology
Diabetes and Metabolism
Health Status
VDP::Medisinske Fag: 700::Helsefag: 800::Epidemiologi medisinsk og odontologisk statistikk: 803
Clinical Biochemistry
DNA Mutational Analysis
030209 endocrinology & metabolism
Hospital Anxiety and Depression Scale
Biochemistry
03 medical and health sciences
Young Adult
0302 clinical medicine
Endocrinology
22q11 Deletion Syndrome
Postoperative Complications
Quality of life
Internal medicine
DiGeorge syndrome
Surveys and Questionnaires
Epidemiology
Medicine
Humans
Child
Aged
Aged
80 and over
Parathyroidectomy
business.industry
Norway
Biochemistry (medical)
Original Articles
Middle Aged
medicine.disease
Autoimmune polyendocrine syndrome type 1
VDP::Medical disciplines: 700::Health sciences: 800::Epidemiology medical and dental statistics: 803
030220 oncology & carcinogenesis
Etiology
Quality of Life
Female
business
Transcription Factors
Zdroj: The Journal of Clinical Endocrinology and Metabolism
Popis: Objective: The epidemiology of hypoparathyroidism (HP) is largely unknown. We aimed to determine prevalence, etiologies, health related quality of life (HRQOL) and treatment pattern of HP. Methods: Patients with HP and 22q11 deletion syndrome (DiGeorge syndrome) were identified in electronic hospital registries. All identified patients were invited to participate in a survey. Among patients who responded, HRQOL was determined by Short Form 36 and Hospital Anxiety and Depression scale. Autoantibodies were measured and candidate genes (CaSR, AIRE, GATA3, and 22q11-deletion) were sequenced for classification of etiology. Results: We identified 522 patients (511 alive) and estimated overall prevalence at 102 per million divided among postsurgical HP (64 per million), nonsurgical HP (30 per million), and pseudo-HP (8 per million). Nonsurgical HP comprised autosomal dominant hypocalcemia (21%), autoimmune polyendocrine syndrome type 1 (17%), DiGeorge/22q11 deletion syndrome (15%), idiopathic HP (44%), and others (4%). Among the 283 respondents (median age, 53 years [range, 9–89], 75% females), seven formerly classified as idiopathic were reclassified after genetic and immunological analyses, whereas 26 (37% of nonsurgical HP) remained idiopathic. Most were treated with vitamin D (94%) and calcium (70%), and 10 received PTH. HP patients scored significantly worse than the normative population on Short Form 36 and Hospital Anxiety and Depression scale; patients with postsurgical scored worse than those with nonsurgical HP and pseudo-HP, especially on physical health. Conclusions: We found higher prevalence of nonsurgical HP in Norway than reported elsewhere. Genetic testing and autoimmunity screening of idiopathic HP identified a specific cause in 21%. Further research is necessary to unravel the causes of idiopathic HP and to improve the reduced HRQOL reported by HP patients.
A Norwegian national survey revealed higher prevalence of non-surgical and lower prevalence of post-surgical hypoparathyroidism than expected. Patients with hypoparathyroidism have reduced HRQoL.
Databáze: OpenAIRE
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